Exclusion of linkage between RET and neuronal intestinal dysplasia type B

✍ Scribed by Barone, Virginia; Weber, Daniel; Luo, Yin; Brancolini, Valeria; Devoto, Marcella; Romeo, Giovanni

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 38 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960315)62:2<195::aid-ajmg15>3.0.co;2-j

✦ Synopsis

Neuronal Intestinal Dysplasia type B (NID B) is a complex alteration of the enteric nervous system belonging to the group of intestinal dysganglionoses which may involve rectum, colon, and small intestine. Second only to Hirschsprung disease (HSCR), NID B is one of the most frequent causes of chronic constipation and pseudo-obstructive intestinal dysmotility. Since NID B is often associated with HSCR and point mutations in the RET proto-oncogene have been identified in HSCR patients, we analyzed two NID B pedigrees to investigate if RET mutations might cause also the NID B phenotype. Linkage analysis demonstrated that the NID B locus is not linked to RET in the pedigrees analyzed. Further genetic analyses will possibly improve the understanding of the cause and facilitate diagnostic procedures in NID B. @